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Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism

Authors :
Caichuan Wei
Haiju Zhang
Miaoying Fu
Jingping Ye
Baozhen Yao
Source :
Frontiers in Pediatrics, Vol 12 (2024)
Publication Year :
2024
Publisher :
Frontiers Media S.A., 2024.

Abstract

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language regression, caused by a CSPP1 gene variant and examines the contributing variables. This paper advances the understanding of JS by summarizing the literature and offering detection patterns for practitioners with clinical suspicions of JS.

Details

Language :
English
ISSN :
22962360
Volume :
12
Database :
Directory of Open Access Journals
Journal :
Frontiers in Pediatrics
Publication Type :
Academic Journal
Accession number :
edsdoj.fca2e8755f9b4b1f8069a451a5ba6318
Document Type :
article
Full Text :
https://doi.org/10.3389/fped.2024.1305754